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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 19-49807304-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49807304&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49807304,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001352262.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.1104G>A",
"hgvs_p": "p.Val368Val",
"transcript": "NM_025129.5",
"protein_id": "NP_079405.2",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 418,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000313777.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025129.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.1104G>A",
"hgvs_p": "p.Val368Val",
"transcript": "ENST00000313777.9",
"protein_id": "ENSP00000313309.4",
"transcript_support_level": 1,
"aa_start": 368,
"aa_end": null,
"aa_length": 418,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025129.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313777.9"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.1185G>A",
"hgvs_p": "p.Val395Val",
"transcript": "ENST00000881282.1",
"protein_id": "ENSP00000551341.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 445,
"cds_start": 1185,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881282.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.1125G>A",
"hgvs_p": "p.Val375Val",
"transcript": "ENST00000881283.1",
"protein_id": "ENSP00000551342.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 425,
"cds_start": 1125,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881283.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.1107G>A",
"hgvs_p": "p.Val369Val",
"transcript": "NM_001352262.2",
"protein_id": "NP_001339191.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 419,
"cds_start": 1107,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352262.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.1107G>A",
"hgvs_p": "p.Val369Val",
"transcript": "ENST00000881280.1",
"protein_id": "ENSP00000551339.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 419,
"cds_start": 1107,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881280.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.1098G>A",
"hgvs_p": "p.Val366Val",
"transcript": "ENST00000939146.1",
"protein_id": "ENSP00000609205.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 416,
"cds_start": 1098,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939146.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.1008G>A",
"hgvs_p": "p.Val336Val",
"transcript": "ENST00000881281.1",
"protein_id": "ENSP00000551340.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 386,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881281.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.999G>A",
"hgvs_p": "p.Val333Val",
"transcript": "ENST00000939148.1",
"protein_id": "ENSP00000609207.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 383,
"cds_start": 999,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939148.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.996G>A",
"hgvs_p": "p.Val332Val",
"transcript": "NM_001171937.2",
"protein_id": "NP_001165408.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 382,
"cds_start": 996,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171937.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.996G>A",
"hgvs_p": "p.Val332Val",
"transcript": "ENST00000528094.5",
"protein_id": "ENSP00000435177.1",
"transcript_support_level": 2,
"aa_start": 332,
"aa_end": null,
"aa_length": 382,
"cds_start": 996,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528094.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.993G>A",
"hgvs_p": "p.Val331Val",
"transcript": "ENST00000956086.1",
"protein_id": "ENSP00000626145.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 381,
"cds_start": 993,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956086.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.954G>A",
"hgvs_p": "p.Val318Val",
"transcript": "NM_001363663.1",
"protein_id": "NP_001350592.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 368,
"cds_start": 954,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363663.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.954G>A",
"hgvs_p": "p.Val318Val",
"transcript": "ENST00000533418.5",
"protein_id": "ENSP00000431731.1",
"transcript_support_level": 5,
"aa_start": 318,
"aa_end": null,
"aa_length": 368,
"cds_start": 954,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533418.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.909G>A",
"hgvs_p": "p.Val303Val",
"transcript": "ENST00000939147.1",
"protein_id": "ENSP00000609206.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 353,
"cds_start": 909,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939147.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.906G>A",
"hgvs_p": "p.Val302Val",
"transcript": "ENST00000881284.1",
"protein_id": "ENSP00000551343.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 352,
"cds_start": 906,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881284.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.900G>A",
"hgvs_p": "p.Val300Val",
"transcript": "ENST00000956087.1",
"protein_id": "ENSP00000626146.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 350,
"cds_start": 900,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956087.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.897G>A",
"hgvs_p": "p.Val299Val",
"transcript": "ENST00000939144.1",
"protein_id": "ENSP00000609203.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 349,
"cds_start": 897,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939144.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.885G>A",
"hgvs_p": "p.Val295Val",
"transcript": "ENST00000939145.1",
"protein_id": "ENSP00000609204.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 345,
"cds_start": 885,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939145.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.798G>A",
"hgvs_p": "p.Val266Val",
"transcript": "ENST00000939143.1",
"protein_id": "ENSP00000609202.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 316,
"cds_start": 798,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939143.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.699G>A",
"hgvs_p": "p.Val233Val",
"transcript": "ENST00000939149.1",
"protein_id": "ENSP00000609208.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 283,
"cds_start": 699,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939149.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.957G>A",
"hgvs_p": "p.Val319Val",
"transcript": "XM_011527340.2",
"protein_id": "XP_011525642.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 369,
"cds_start": 957,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527340.2"
},
{
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001352262.2",
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"effects": [
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"inheritance_mode": "Unknown",
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{
"score": -2,
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"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
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],
"inheritance_mode": "AD",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}